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Malformative syndrome characterized by corpus callosum agenesis associated with multiple skeletal anomalies.

Bone Dysplasia with Corpus Callosum Agenesis.

One case reported in the literature. No mention of possible chromosomal abnormalities or method of genetic transmission.

Agenesis of the corpus callosum with significant gross motor and developmental delay. Circular-shaped head with lambdoid synostosis (no surgical correction was required), broad forehead, and triangular-shaped face. Diffuse bony abnormalities, including multiple “Wormian” bones (named after the Danish anatomist Ole Worm [1588-1654], describing small intrasutural bones [most commonly lambdoid suture], that can appear in significant numbers), osteopenic vertebrae, thin ribs, short, straight and laterally tapering clavicles, abnormal phalanges, and retarded bone age.

Developmentally delayed patients may be uncooperative. Cranial synostosis can lead to raised intracranial pressure, although this was not the case in this patient. Osteopenic bones may be fragile and prone to fracture during handling and positioning of anesthetized patients.

Kozlowski K, Ouvrier RA: Agenesis of the corpus callosum with mental retardation and osseous lesions. Am J Med Genet 48:6, 1993.  [PubMed: 8357037]

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